Cortical Dysplasia, Complex, With Other Brain Malformations 6; Cdcbm6

Clinical Features

Top most frequent phenotypes and symptoms related to Cortical Dysplasia, Complex, With Other Brain Malformations 6; Cdcbm6

  • Intellectual disability
  • Global developmental delay
  • Microcephaly
  • Ataxia
  • Delayed speech and language development
  • Microphthalmia
  • Cerebellar hypoplasia
  • Polymicrogyria
  • Abnormal cerebellum morphology
  • Heterotopia

And another 3 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
No data available about the known clinical features onset.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.


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Cortical Dysplasia, Complex, With Other Brain Malformations 6; Cdcbm6 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Cerebral Cortical Malformation Sequencing Panel.

By Genetic Services Laboratory University of Chicago (United States).

SNAP29, TUBA8, TUBB2A, TUBG1, VLDLR, ACTB, RAB18, ACTG1, B3GNT2, B4GAT1, CCND2, ARFGEF2, TBC1D20, RAB3GAP1, RAB3GAP2, NDE1, CDK5, FKRP, ARX, ATP6V0A2 , (...)

View the complete list with 34 more genes
Specificity
2 %
Genes
100 %
Lissencephaly Sequencing Panel.

By Genetic Services Laboratory University of Chicago (United States).

SNAP29, TUBG1, VLDLR, ACTB, RXYLT1, ACTG1, B4GAT1, NDE1, CDK5, FKRP, ARX, ATP6V0A2, POMGNT1, POMT2, TUBA1A, TUBB3, TUBB, GMPPB, SRD5A3, POMGNT2 , (...)

View the complete list with 16 more genes
Specificity
3 %
Genes
100 %
Comprehensive Lissencephaly Panel.

By Genetic Services Laboratory University of Chicago (United States).

SNAP29, TUBG1, VLDLR, ACTB, RXYLT1, ACTG1, B4GAT1, CDK5, FKRP, ARX, ATP6V0A2, POMGNT1, POMT2, TUBA1A, TUBB3, TUBB, GMPPB, SRD5A3, POMK, DCX , (...)

View the complete list with 14 more genes
Specificity
3 %
Genes
100 %
Cerebral Cortical Malformations Deletion/Duplication Panel.

By Genetic Services Laboratory University of Chicago (United States).

SNAP29, TUBA8, TUBB2A, TUBG1, VLDLR, ACTB, RAB18, ACTG1, B3GNT2, B4GAT1, CCND2, ARFGEF2, TBC1D20, RAB3GAP1, RAB3GAP2, NDE1, CDK5, FKRP, ARX, ATP6V0A2 , (...)

View the complete list with 34 more genes
Specificity
2 %
Genes
100 %
Ataxia Exome Panel.

By Genetic Services Laboratory University of Chicago (United States).

BCS1L, RTN2, SACS, SCN1A, SCN2A, SCN8A, SCO1, SDHA, SDHD, SLC16A2, SLC17A5, SLC19A2, SLC1A3, SLC20A2, SLC2A1, SLC6A1, SLC9A1, SLC9A6, SNAP25, SOD1 , (...)

View the complete list with 457 more genes
Specificity
1 %
Genes
100 %
Cortical dysplasia, complex, with other brain malformations 6 (sequence analysis of TUBB gene).

By CGC Genetics (Portugal).

TUBB
Specificity
100 %
Genes
100 %
Lissencephaly and related disorders NGS test.

By Connective Tissue Gene Tests (United States).

SNAP29, TUBA8, TUBB2A, TUBG1, VLDLR, ACTB, RXYLT1, ACTG1, B4GAT1, NDE1, CDK5, FKRP, ARX, ATP6V0A2, POMGNT1, POMT2, TUBA1A, TUBB3, TUBB, GMPPB , (...)

View the complete list with 22 more genes
Specificity
3 %
Genes
100 %
Lissencephaly and related disorders Deletion / Duplication test.

By Connective Tissue Gene Tests (United States).

SNAP29, TUBA8, TUBB2A, TUBG1, VLDLR, ACTB, RXYLT1, ACTG1, B4GAT1, NDE1, CDK5, FKRP, ARX, ATP6V0A2, POMGNT1, POMT2, TUBA1A, TUBB3, TUBB, GMPPB , (...)

View the complete list with 22 more genes
Specificity
3 %
Genes
100 %

We have 7 more panels available in our App

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Sources and references

You can check the following sources for additional information.

OMIM Rare Disease Symptoms Checker

If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like YOU-HOOVER-FONG SYNDROME; YHFS PFEIFFER SYNDROME TYPE 3 PACHYDERMOPERIOSTOSIS CILIARY DYSKINESIA, PRIMARY, 29; CILD29 ALPORT SYNDROME, X-LINKED; ATS CYCLIC NEUTROPENIA MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2X; LGMD2X

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